About Thalassemia Stem Cell Therapy

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What is Thalassemia?

This is an inherited blood disorder which leads to the body making an abnormal form of hemoglobin. Hemoglobin, which is a protein in red blood cells, transports oxygen throughout the body. Thalassemia destroys a large number of red blood cells which leads to anemia.

• Alpha thalassemia: This type of thalassemia occurs when alpha globin proteins are mutated or missing.
• Beta thalassemia: This type of thalassemia occurs when gene defects affect the production of beta globin protein.
• Thalassemia major: This type of thalassemia occurs when the defective gene is inherited from both parents. It is also known as Cooley anemia.
• Thalassemia minor: This occurs if the defective gene is inherited from one parent. People with thalassemia minor are carriers of the disease.

When alpha thalassemia is severe, it causes stillbirth (death of the unborn baby in the late pregnancy stages or during birth.

Children who are born with beta thalassemia suffer from severe anemia during their first year of life.

Other symptoms of thalassemia include:

• Fatigue
• Delayed growth
• Bone deformities in the face
• Jaundice which is characterized by yellow skin
• Shortness of breath

• Physical exam: If thalassemia is suspected, your doctor will perform a physical exam to check for an enlarged spleen.
• Blood tests: Your blood will be drawn and a blood sample will be sent for laboratory tests.
• The red blood cells will have an abnormal shape and appear small when observed under a microscope. A complete blood count is done and will be able to reveal anemia
• Hemoglobin electrophoresis: This is a test which shows if the abnormal form of hemoglobin is present
• Mutational analysis: This is a test which helps detect alpha thalassemia

Thalassemia major is usually treated with regular folate supplements and blood transfusions. However, if receiving blood transfusions, iron supplements should not be taken. This is because it can cause iron build up in the body which can cause complications.

For patients who receive numerous blood transfusions, a treatment called chelation therapy is required. This therapy is done to eliminate the excess iron from the body.

Prognosis

Severe thalassemia can lead to heart failure and death. Regular blood transfusions and chelation therapy help improve the outcome.

Less severe thalassemia usually does not cause early death.

If you have a family history of thalassemia and are thinking of having children you should seek genetic counseling.

Stem cell transplants are the only known cure for thalassemia. However, they are not often done. This is because of the significant risks involved.

Stem cells are formed in the bone marrow (the spongy tissue found at the center of some bones). Stem cells are able to develop into different types of blood cells. Stem cells are given to patients intravenously. The donor has to undergo testing to see if they are a match. The stem cells once transfused begin to produce healthy red blood cells to affected cells.

Learn more about Thalassemia

• Thalassemia on Medline Plus
• Thalassemia on NIH